present in Gene: COL1A2
present in Chromosome: 7
Position on Chromosome: 94413139
Alleles of this Variant: A/G
rs72658127 in
COL1A2 gene and
Dysmorphic features
PMID 15077201 2004 Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
PMID 21344539 2011 COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.
PMID 17078022 2007 Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
PMID 9557891 1998 Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).
PMID 8071956 1994 The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.
PMID 21801164 2012 Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.
PMID 9295084 1997 Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
PMID 2824475 1987 Organization of the human pro-alpha 2(I) collagen gene.
PMID 458828 1979 Genetic heterogeneity in osteogenesis imperfecta.
PMID 24140640 2013 Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.
PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
PMID 28625337 2018 Osteogenesis imperfecta - A clinical update.
PMID 24668929 2014 Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.
PMID 28916840 2018 A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern.
PMID 2010058 1991 Mutations in collagen genes: causes of rare and some common diseases in humans.
PMID 21912751 2011 Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta.
rs72658127 in
COL1A2 gene and
Multiple congenital anomalies
PMID 15077201 2004 Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
PMID 17078022 2007 Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
PMID 2824475 1987 Organization of the human pro-alpha 2(I) collagen gene.
PMID 28916840 2018 A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern.
PMID 458828 1979 Genetic heterogeneity in osteogenesis imperfecta.
PMID 21344539 2011 COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.
PMID 9557891 1998 Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).
PMID 8071956 1994 The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.
PMID 2010058 1991 Mutations in collagen genes: causes of rare and some common diseases in humans.
PMID 28625337 2018 Osteogenesis imperfecta - A clinical update.
PMID 21912751 2011 Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta.
PMID 9295084 1997 Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
PMID 24140640 2013 Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.
PMID 24668929 2014 Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.
PMID 21801164 2012 Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.